与汉族和蒙古族人群中后纵韧带骨化相关的RUNX2和IL-15RA基因多态性

RUNX2 and IL-15RA Polymorphisms associated with OPLL in the Han and Mongolian population.

作者信息

Li Pengfei, Liu Zongzheng, Liu Jianfeng, Xing Wei, Fu Haiping, Zhu Shufen

机构信息

Spinal Surgery of Inner Mongolia People's Hospital, Hohhot 010018, China.

Animal Husbandry and Veterinary Research Institute of Qingdao, Qingdao 266100 China.

出版信息

J Pak Med Assoc. 2020 Sep;70 [Special Issue](9):98-104.

PMID:33177736

Abstract

OBJECTIVE

This study aimed to find polymorphic loci associated with OPLL in Mongolian and Han population, the relationship of 9 polymorphic loci in Runx2 and IL-15RA with OPLL were identified in Mongolian and Han populations in Inner Mongolia.

METHODS

Gene polymorphism of two candidate genes Runx2 and IL-15RA were detected by sequencing in 99 OPLL patients of Han population and 98 patients of Mongolian people. Controls included 102 healthy Han people and 104 healthy Mongolian people. The result of sequencing of patients were compared with control subjects to screen loci with significant difference.

RESULTS

In Han population, results of genotyping showed rs1321075 and rs12333172 in Runx2 and rs2296139 in IL-15RA differed between patients and healthy people (P<0.05); Genotype of rs1321075 and rs16873379 and rs2296139 in IL-15RA have significant difference between patients and controls in Mongolian people (P<0.05); There was no significant difference found in genotype and frequency of other loci (P>0.05).

CONCLUSIONS

Polymorphism of rs1321075 and rs2296139 in Runx2 and IL-15RA may be responsible for OPLL in Mongolian and Han population patients. rs12333172 was related to OPLL in Han population and rs16873379 was responsible for OPLL in Mongolian people in Inner Mongolia.

摘要

目的

本研究旨在寻找蒙古族和汉族人群中与后纵韧带骨化症（OPLL）相关的多态性位点，在内蒙古地区的蒙古族和汉族人群中鉴定Runx2和IL - 15RA基因9个多态性位点与OPLL的关系。

方法

采用测序法检测99例汉族OPLL患者和98例蒙古族OPLL患者两个候选基因Runx2和IL - 15RA的基因多态性。对照组包括102名健康汉族人和104名健康蒙古族人。将患者的测序结果与对照受试者进行比较，以筛选出有显著差异的位点。

结果

在汉族人群中，基因分型结果显示Runx2基因中的rs1321075和rs12333172以及IL - 15RA基因中的rs2296139在患者和健康人之间存在差异（P<0.05）；在蒙古族人群中，Runx2基因中的rs1321075、IL - 15RA基因中的rs16873379和rs2296139的基因型在患者和对照组之间有显著差异（P<0.05）；其他位点的基因型和频率无显著差异（P>0.05）。